OMIA:002891-9669 : Lissencephaly, DCX-related in Mustela putorius furo (domestic ferret)

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300121 (gene) , 300067 (trait)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

Molecular basis: Kou et al. (2015)  "report that by co-injecting Cas9 mRNA and sgRNAs into one-cell-stage embryos, founder ferrets with biallelic mutations in one of three genes (Dcx, Aspm and Disc1) can be generated with high efficiency up to 73.3%. Intriguingly, the founder animal carrying Dcx mutations showed a lissencephaly phenotype similar to human Doublecortin patients." This study involves gene edited or genetically modified organisms (GMO).

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DCX doublecortin Mustela putorius furo NW_025422049.1 (15054523..15157695) DCX Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002891-9669: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Wang, W., Yin, C., Wen, S., Liu, Z., Wang, B., Zeng, B., Sun, L., Zhou, X., Zhong, S., Zhang, J., Ma, W., Wu, Q., Wang, X. :
DCX knockout ferret reveals a neurogenic mechanism in cortical development. Cell Rep 43:S2211-1247(24)00837-4:114508, 2024. Pubmed reference: 39018244. DOI: 10.1016/j.celrep.2024.114508.
2015 Kou, Z., Wu, Q., Kou, X., Yin, C., Wang, H., Zuo, Z., Zhuo, Y., Chen, A., Gao, S., Wang, X. :
CRISPR/Cas9-mediated genome engineering of the ferret. Cell Res 25:1372-5, 2015. Pubmed reference: 26565559. DOI: 10.1038/cr.2015.130.

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  • Created by Imke Tammen2 on 07 Sep 2024
  • Changed by Imke Tammen2 on 07 Sep 2024